Reports (MDPI)最新文献

Case reports are fundamental tools that allow clinicians to understand patients scientifically [...].

Background and Clinical Significance: Trousseau's syndrome, characterized by recurrent thromboembolic events and non-bacterial thrombotic endocarditis, represents a severe paraneoplastic condition associated with poor prognosis in cancer patients. Due to the growing life expectancy of cancer patients, Trousseau's syndrome is becoming more frequent. Consequently, risk of thrombosis and bleeding assessment, as well as early diagnosis and opportune therapy will gain importance. Case Presentation: We describe a case of a 63-year-old Caucasian male presenting with ischemic stroke. During management, he developed a mitral valve marantic endocarditis, and finally the diagnosis of pulmonary adenocarcinoma was performed. The case description is followed by a brief review of the relevant literature on the condition. Discussion and Conclusions: This case highlights the complexity of diagnosing and managing Trousseau's syndrome. Early recognition, appropriate anticoagulation strategies, and the need for multidisciplinary management are crucial to improve the outcomes and the quality of life for cancer patients.

Background and Clinical Significance: Adverse reactions to metal debris (ARMD) are a rare but increasingly recognized complication following total hip arthroplasty (THA), with some studies suggesting upwards of 5% of metal-on-metal (MoM) and 3% of metal-on-polyethylene (MoP) prostheses being attributed to this. Historically, metallosis due to MoM implant design was the primary cause of ARMD. However, ARMD can also arise in metal-on-polyethylene (MoP) prostheses due to trunnionosis, which involves wear and corrosion at the modular femoral head-neck interface. Clinically, ARMD can resemble periprosthetic joint infection (PJI), complicating both diagnosis and management. Case Presentation: We present the case of a 40-year-old female with a history of systemic degenerative joint disease with bilateral MoP THAs who developed progressive pain and swelling in the upper left thigh, in which the prosthesis was first put in 22 years prior. The patient presented initially in a vascular surgery department for an infected iliopsoas cyst communicating with the hip where she had received surgery 2 years prior. The symptomatology reoccurred, and imaging revealed a large mass near the prosthesis and elevated inflammatory markers. Intraoperatively, a large volume of sero-purulent fluid was encountered, prompting a diagnostic workup for PJI. All cultures returned negative, and histopathology revealed macrophage-dominant infiltration with metallic debris, consistent with ARMD. After infection was definitively excluded, a revision THA was performed with an exchange of all modular components. The patient recovered without complications, and at six months follow-up, she demonstrated stable implant positioning, restored function, and no recurrence of symptoms. Conclusions: This case highlights the diagnostic complexity of PJI in joint arthroplasty and reveals the importance of a protocol-driven approach to exclude it prior to surgical revision. As the incidence of trunnion-related failure becomes more recognized in the literature, clinicians must consider ARMD in the differential diagnosis of late THA complications. Appropriate diagnosis is essential for guiding treatment and avoiding unnecessary complications, morbidity, and treatment related side-effects.

Background and Clinical Significance: In a single phenotypically female patient, we describe the rare co-occurrence of partial androgen insensitivity syndrome (PAIS) and congenital adrenal hyperplasia (CAH). Partial androgen insensitivity syndrome (PAIS) is one of disorder of sex development (DSD) with a 46 XY karyotype. Congenital adrenal hyperplasia (CAH) is a genetic defect in adrenal steroidogenesis. Case presentation: We present the case of a 26-year-old female patient who was observed to have abnormally formed external genitourinary organs. She was diagnosed at the neonatal period. Tests performed showed a 46 XY karyotype, an absence of sex chromatin with a weakly positive DNA test for the SRY gene, an absence of uterine primordium with the presence of male gonads in the perineal skin folds, and a urethral outlet at the base of an undeveloped genital process. The daily urinary steroid excretion profile was normal. The patient was diagnosed with partial androgen insensitivity syndrome (PAIS). As a 4-year-old child, she underwent a bilateral gonadectomy due to possible further virilization and also the risk of testicular malignancy. Despite treatment, progressive androgenization was observed, the cause of which turned out to be congenital adrenal hyperplasia (CAH) in the course of P450 oxidoreductase (POR) disorder. Conclusions: In this article, we highlight the exceptional rarity of the co-occurrence of PAIS and CAH, underscoring the need for a multidisciplinary and individualized approach in the absence of clear guidelines regarding surgical timing and gender identity. Careful clinical evaluation and ongoing observation are essential for accurate diagnosis and optimal patient care.

Background and clinical Significance: The management of head and neck squamous cell carcinoma in elderly patients is a clinical scenario that is currently under debate. Case Presentation: Patients over 65 years old are particularly vulnerable, and the administration of curative oncological care is challenging. Furthermore, such treatment has the potential to be extremely toxic. Spatially fractionated radiation therapy (SFRT) is a radiotherapy modality that offers a promising approach for treating tumors. This method involves the delivery of a spatially modulated dose, resulting in highly non-uniform dose distributions. This leads to the generation of peaks and valleys of doses within a target volume. In this case study, a patient with an ulcerating lesion on the right cheek was treated with a two-phase radiotherapy regimen. The purpose of the first procedure was to stimulate the immunogenicity of the tumor microenvironment. In the second part of the procedure, standard fractionated irradiation was delivered with curative aim. Conclusions: The clinical response indicates that this combination of high-dose "localized" and low-dose irradiation can produce immunological effects with an acceptable toxicity profile.

Background and Objectives: The anesthetic nerve block test is a surgical technique that can assist in the differential diagnosis of forefoot pain. The MTP joint, enclosed by its capsule, may act as a sealed cavity with predictable contrast dispersion, whereas the IM space, lacking clear boundaries and containing bursae and the plantar digital nerve, favors diffuse spread. Due to the high rate of false positives in suspected cases of Morton's neuroma with the anesthetic block current procedure in the intermetatarsal space, the aim of this study was to propose an alternative to the current procedure. Material and Methods: Six fresh cadaveric feet were used. Under ultrasound guidance, the 2nd-4th MTP joints received stepwise intra-articular injections of radiopaque contrast. The third common digital nerve was injected within the third intermetatarsal space. Standard radiographs were obtained to assess distribution and proximal spread. Results: A volume of 0.3 mL was sufficient to fully reach the intra-articular cavity and potentially induce effective localized anesthesia. When the third common digital plantar nerve was injected in an anatomically healthy region, the contrast medium showed a proximal diffusion pattern extending up to the mid-diaphyseal level of the third and fourth metatarsal bones. On radiographs, the intra-articular infiltration lines appear sharply demarcated, supporting the interpretation of the metatarsophalangeal joint as a sealed compartment. Conclusions: Low intra-articular anesthetic volumes may yield targeted effects, while Morton's neuroma injections spread proximally, risking loss of diagnostic specificity; this technique may improve decision-making accuracy and reduce failures.

Background and Clinical Significance: Idiopathic pulmonary arterial hypertension is a rare disorder, often linked to genetic predisposition. Canonical pulmonary arterial hypertension genes such as BMPR2, KCNK3, and TBX4 are well described, but novel associations continue to emerge. Glomulin (GLMN) encodes a protein essential for vascular smooth-muscle biology, classically implicated in glomuvenous malformations, yet not previously associated with pulmonary arterial hypertension. Case Presentation: We present a 49-year-old woman with progressive dyspnea, edema, and persistent hypercapnic respiratory failure. Right-heart catheterization confirmed precapillary pulmonary hypertension. Comprehensive evaluation, including ventilation/perfusion scanning, autoimmune panel, polysomnography, and high-resolution computed tomography, excluded secondary causes. Respiratory assessment revealed diaphragmatic weakness and reduced respiratory muscle pressures, consistent with primary myopathy and explaining the unusual hypercapnic profile. Whole-genome sequencing identified a heterozygous pathogenic GLMN nonsense variant, while canonical pulmonary arterial hypertension genes were negative. No cutaneous or mucosal glomuvenous malformations were found. The patient was treated with oxygen therapy, diuretics, non-invasive ventilation, and dual oral pulmonary arterial hypertension therapy (ambrisentan and tadalafil), with stabilization but persistent hypercapnia. Conclusions: To our knowledge, this is the first reported co-occurrence of idiopathic pulmonary arterial hypertension and a pathogenic GLMN variant. While causality cannot be inferred, glomulin's role in vascular smooth-muscle maturation provides a plausible link to pulmonary vascular remodeling. This case underscores the importance of assessing respiratory muscle function in idiopathic pulmonary arterial hypertension patients with hypercapnia and highlights the potential relevance of extended genetic testing in rare pulmonary vascular disease.

Background and clinical significance: Tranexamic acid (TXA) is commonly used for menorrhagia. Common side effects include diarrhoea, nausea, and vomiting. However, more serious and rare side effects, including embolism, thrombosis, and seizures, are less commonly considered. Case presentation: We report the case of a 39-year-old woman of Asian origin who presented after a first-time seizure while driving, following starting tranexamic acid for menorrhagia seven days prior. She complained of a headache, nausea, neck stiffness, floaters, and blurred vision. Her lactate was elevated on presentation. On examination there were no neurologic abnormalities. A computed tomography (CT) head scan showed acute haemorrhagic foci along the left temporal lobe. This prompted a CT venography, which showed filling defects in the left transverse and sigmoid sinuses, in keeping with cerebral venous sinus thrombosis. MRI of the head further showed a blooming artefact, indicating secondary thrombosis of the lateral tentorial sinus on the left side extending into the vein of Labbe. Following the diagnosis of cerebral venous sinus thrombosis, the patient was started on regular levetiracetam as well as a therapeutic dose of low molecular weight heparin. Since the initial episode, she has been seizure-free for over three months now. Conclusions: This case highlights the importance of considering less common side effects of tranexamic acid in patients who are taking TXA and are presenting with first-time seizures and headaches. These patients should be monitored for embolic-related intracranial events. A careful diagnostic approach, including cerebrovascular imaging, is essential for an accurate diagnosis and effective treatment.

Background and Clinical Significance: Corynebacterium striatum is an emerging multidrug-resistant pathogen increasingly implicated in infections among immunocompromised patients and patients with indwelling medical devices. Case Presentation: We report the probable first case of pseudomembranous inflammation associated with C. striatum infection in a 53-year-old male with an implanted left ventricular assist device (LVAD) awaiting heart transplantation. The patient experienced recurrent episodes of C. striatum bacteremia despite multiple courses of targeted antibiotic therapy, including vancomycin, linezolid, tedizolid, teicoplanin, and dalbavancin. During urgent heart transplantation, pseudomembranous tissue surrounding the LVAD driveline was observed, and cultures confirmed C. striatum device infection. Histopathological analysis revealed necrotic elements and Gram-positive organisms consistent with pseudomembranous inflammation. Conclusions: The case describes the diagnosis and treatment of this rare infection, highlighting the pathogenic potential of C. striatum, its role in device-related infections, and the histopathological evidence of pseudomembrane formation.

Background and Clinical Significance: Early lead failure after dual-chamber pacemaker implantation is rare but clinically significant, particularly when associated with thromboembolic complications. Technical pitfalls at the time of implantation, such as suture fixation without protective sleeves, may be predisposed to premature lead damage and abrupt device malfunction. This case highlights the role of device interrogation in diagnosing arrhythmia-related stroke, the challenges of reimplantation in the setting of venous occlusion and anticoagulation, and the value of leadless pacing as a safe rescue strategy. Case Presentation: A 78-year-old man with a history of complete atrioventricular block underwent dual-chamber pacemaker implantation one year earlier. He presented to the emergency department with acute aphasia, right-sided hemiparesis, and facial asymmetry. Stroke was diagnosed, and new-onset atrial fibrillation was documented. Device interrogation revealed an abrupt fall in lead impedance followed by a sharp rise consistent with lead insulation failure and premature battery depletion. Fluoroscopy demonstrated multiple focal narrowings of the leads and complete left subclavian vein occlusion, making conventional transvenous reimplantation unfeasible, while extraction was judged high risk. Right-sided reimplantation was avoided due to hemorrhagic risk under anticoagulation. A leadless pacemaker was implanted successfully in the apico-septal region of the right ventricle via ultrasound-guided femoral access. Hemostasis was secured with a figure-of-8 suture fixed inside a 3-way tap, providing constant compression and preventing hematoma. At two-months follow-up, device function was stable and neurological recovery was favorable (mRS = 2). Conclusions: This case underscores how multiple adverse factors-stroke, arrhythmia detection, early device failure, venous occlusion, and anticoagulation-may converge in a single patient, and demonstrates leadless pacing as a safe and effective rescue strategy in such complex scenarios.